20101 to 20200 most common queries

List represents a sample of symptoms, diseases, and other queries. Updated weekly.

• Presyncope or Syncope
• Variable Age at Onset - Range Infancy to Adulthood
• Mutation in the DEPDC Gene
• Autism Spectrum Disorder
• Abnormal Interictal EEG
• Focal or Multifocal Onset Seizure
• Mutation in the Gamma C Crystallin
• Opacities in Embryonic, Fetal, and Infantile Nuclei
• Caused by Mutation in the Alpha A Crystallin Gene
• Fan-Shaped Cataract
• Opacities in Embryonal Nuclei
• Multiple Types of Congenital Cataract
• Growth Hormone Low to Normal
• Narcolepsy and Deafness Are the First Symptoms
• Adult Onset (4th to 5th Decade of Life)
• Cerebrospinal Fluid Hypocretin Decreased
• Limb Lymphedema
• Caused by Mutation in the KIAA0196 Gene (KIAA0196)
• Atrophy of Shins
• Upper Limb Spasticity
• Fatal without Hematopoietic Stem Cell Transplantation
• Caused by Mutation in the Syntaxin 11 Gene
• Defective NK Cell Degranulation
• Defective NK-Cell Activity
• Soluble IL2 Receptor Increased
• Hyperinflammatory Disorder
• Increased Risk of Myelodysplastic Syndrome or Leukemia
• No 'Swiss Cheese' Abnormality
• Heterochromatin in Erythroblasts Normal
• Dysplastic Erythroblasts with Internuclear Chromatin Strands
• Megaloblastic Erythroblasts in Bone Marrow (Biopsy)
• Osteitis Fibrosa Cystica due to Elevated Parathyroid Hormone
• Limited Flexion
• Capillary Hemangioma on Face
• Broad Metopic Suture
• Raised Nasal Bridge
• Corneal Drying
• Macroblepharon
• Respiratory Difficulties due to Orofacial Malformations
• Absence of Pubic Bones
• Abnormal Ossicles
• Shortening of the Clavicles
• Lack of Scrotal Sac
• Lack of Testes
• Onset between Second and Sixth Decade
• Mutation in the POU4F3 Gene
• Downward-Sloping or Flat Audiogram
• Postlingual Sensorineural Hearing Loss
• Hypotrichosis
• Lamellar Body-Like Deposits in Stratum Corneum
• Thin Stratum Granulosum
• Very Thin Stratum Granulosum of Hair Infundibulum
• Hyperkeratosis of Hair Infundibulum
• Thinned Hair Follicle Epithelium
• Orthohyperkeratosis in Stratum Corneum
• Sparse Eyelashes (Especially Lower Eyelid)
• Long Curly Dark Upper Eyelashes
• Commonly Death in Utero or in Early Infancy
• Mutation in the FAM111A Gene
• Long Bone Fractures Prenatally
• Micromelic Short Limbs
• Hypoplastic Cranial Bones
• Bones Dense but Thin
• Thin Ribs and Clavicles
• Thermosensitive Neuropathy
• Mutation in the Keratin 85 Gene
• Nuclear Coralliform Cataract
• Mutation in the ABCB11 Gene
• Mutation in the TNNT2 Gene
• Intermittent Respiratory Insufficiency due to Muscle Weakness
• Type 2 Fiber Atrophy Seen on Biopsy
• Decreased Size of Nerve Terminals Seen on Muscle Biopsy
• Thickened Endplate Basal Lamina (Muscle Biopsy)
• Diarrhea due to Smooth Muscle Involvement
• Some Features May be Variable
• Mutation in the Homolog of the Drosophila Dachsous 1 Gene
• Respiratory Difficulties due to Tracheomalacia
• Flexion of the PIP Joints
• Thickened Frontal Bones
• Thick Gums
• Thickening of the Nasal Alae
• Intestinal Malrotation - Esophageal Atresia
• Some Patients Have Asymptomatic Hypocalcemia
• Caused by Mutation in the Calcium-Sensing Receptor Gene
• Bone Mineral Density of Lumbar Spine Increased
• Mild or Severe Hypocalcemia
• Pulmonary Hypoplasia Associated with Diaphragmatic Hernia
• Giant Somatosensory Evoked Potentials
• Occasionally Generalized Tonic Clonic Seizures
• Mutation in the COL9A3 Gene
• Homozygous Phenotype Not More Severe
• Mutation in the ETS2 Repressor Factor Gene
• Mild Shortening of Digits
• Pansynostosis
• Coronal Synostosis
• Sagittal Synostosis
• Dental Malocclusion Class I
• Vertical Displacement of Nose
• Exorbitism (Major Feature)
• Prominent Forehead (Major Feature)